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  3. TBK1
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Susceptibility to Viral Infections

Gene: TBK1

Green List (high evidence)
TBK1 (TANK binding kinase 1)
EnsemblGeneIds (GRCh38): ENSG00000183735
EnsemblGeneIds (GRCh37): ENSG00000183735
OMIM: 604834, Gene2Phenotype
TBK1 is in 7 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Hereditary predisposition to infections, MONDO:0015979, TBK1-related

Mode of pathogenicity
Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments

Created: 26 Oct 2022, 8:23 a.m.
Last Modified: 26 Oct 2022, 8:23 a.m.
Panel version: 0.93

Peter McNaughton (Queensland Children's Hospital)

Green List (high evidence)

2 unrelated patients with herpes encephalitis. Extensive functional validation. Dominant negative inheritance.
Created: 26 Oct 2022, 6:37 a.m. | Last Modified: 26 Oct 2022, 6:37 a.m.
Panel Version: 0.93

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Susceptibility to herpes encephalitis

Publications

Created: 26 Oct 2022, 6:37 a.m.
Last Modified: 26 Oct 2022, 6:37 a.m.
Panel version: 0.93

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance Immunology Flagship
  • Victorian Clinical Genetics Services
Phenotypes
  • Hereditary predisposition to infections, MONDO:0015979, TBK1-related
OMIM
604834
Clinvar variants
Variants in TBK1
Penetrance
None
Publications
Mode of Pathogenicity
Other
Panels with this gene

History Filter Activity

26 Oct 2022, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: tbk1 has been classified as Green List (High Evidence).

26 Oct 2022, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: TBK1 were changed from to Hereditary predisposition to infections, MONDO:0015979, TBK1-related

26 Oct 2022, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: TBK1 were set to

26 Oct 2022, Gel status: 3

Set mode of pathogenicity

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of pathogenicity for gene: TBK1 was changed from Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments to Other

26 Oct 2022, Gel status: 3

Set mode of pathogenicity

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of pathogenicity for gene: TBK1 was changed from to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments

26 Oct 2022, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: TBK1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: TBK1 was added gene: TBK1 was added to Susceptibility to viral infections_MelbourneGenomics_AustralianGenomics_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Immunology Flagship Mode of inheritance for gene: TBK1 was set to Unknown